Advances in the Diagnosis and Disease-Modifying Management of Transthyretin Amyloid Cardiomyopathy: A Narrative Review

TL;DR

This review discusses recent progress in diagnosing and treating a heart condition caused by amyloid buildup, emphasizing new therapies and diagnostic tools.

Contribution

The paper synthesizes recent advances in diagnosis and treatment of ATTR-CM, emphasizing non-invasive methods and disease-modifying therapies.

Findings

Non-invasive diagnostics now allow accurate ATTR-CM identification without biopsies.

Disease-modifying therapies targeting transthyretin improve patient outcomes.

Challenges remain in screening, diagnosis timing, and therapy integration.

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized cause of heart failure that has historically been underdiagnosed due to nonspecific clinical presentation and limited awareness. Advances in non-invasive diagnostic modalities have transformed the identification of ATTR-CM, allowing accurate diagnosis without routine reliance on endomyocardial biopsy and enabling earlier-stage disease detection. These developments have coincided with a rapidly evolving therapeutic landscape, marked by the introduction of disease-modifying treatments that directly target transthyretin stability or production rather than providing solely supportive care. Meaningful improvements in clinical outcomes with transthyretin stabilizers and gene-silencing therapies have been seen, fundamentally altering disease management and prognosis. Despite this progress, challenges persist in optimizing screening strategies, ensuring timely diagnosis, and integrating emerging therapies into routine clinical practice. This narrative review synthesizes contemporary evidence on the pathobiology, diagnosis, and treatment of ATTR-CM, highlighting recent advances and persistent gaps in care. While it provides a qualitative overview of the current landscape to improve patient outcomes, it does not constitute a formal systematic review or meta-analysis.